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Article

Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene.

Journal of child neurology - 1 May 2005

Zeharia Avraham, Fischel-Ghodsian Nathan, Casas Kari, Bykhocskaya Yelena, Tamari Hana, Lev Dorit, Mimouni Marc, Lerman-Sagie Tally

Abstract excerpt

We report the seventh case of autosomal recessive inherited mitochondrial myopathy, lactic acidosis, and sideroblastic anemia The patient, a product of consanguineous Persian Jews, had the association of mental retardation, dysmorphic features, lactic acidosis, myopathy, and sideroblastic anemia. Muscle biopsy demonstrated low activity of complexes 1 and 4 of the respiratory chain. Electron microscopy revealed...

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Source

Identifiers

PMID: 15971356
DOI: 10.1177/08830738050200051301

Genes

PUS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene.PMID 15971356Read ↗

Respiratory complex I deficiency caused by a novel multi-exonic PUS1 deletion.Semantic proximity Read ↗

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).Semantic proximity Read ↗

Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.Semantic proximity Read ↗

Severe pulmonary arterial hypertension in congenital sideroblastic anemia from PUS1 mutation - a case report.Semantic proximity Read ↗

A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation.Semantic proximity Read ↗

Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations.Semantic proximity Read ↗

Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33.Semantic proximity Read ↗

A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations.Semantic proximity Read ↗

Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect.Semantic proximity Read ↗

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